Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAPN12_chr19_38725192_38749474	38728448	T T	TCCTCCTC others(3): Show TCCTCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	342	0.0029	10	c.24 others(21): Show c.2403_*2404insGAGGAGGAGG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		1743		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735639	G G	GGTAGGGG others(3): Show GGTAGGGGACC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0005 a0011c0016t0005	a0011c0016t0005g0263 a0011c0016t0005g0263	1	342	0.0029	10	c.158 others(25): Show c.1584-96_1584-95insGGTCCCCTAC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735687	G G	GGGGGCGG others(3): Show GGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00735.hp1 others(12): Show HG00140.hp2 HG00558.hp1 HG00735.hp1 HG01175.hp1 HG01243.hp2 HG01943.hp1 HG01952.hp1 HG02602.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp2 NA18522.hp2 NA18747.hp2 NA18986.hp2 NA19070.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0023	a0001c0001 a0002c0004 a0005c0007 others(1): Show a0001c0001 a0002c0004 a0005c0007 a0023c0028	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0002c0004t0001 a0005c0007t0003 a0023c0028t0001	a0001c0001t0001g0012 a0001c0001t0001g0084 a0001c0001t0001g0087 others(11): Show a0001c0001t0001g0012 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0153 a0001c0001t0006g0257 a0001c0001t0009g0254 a0001c0001t0009g0255 a0002c0004t0001g0063 a0005c0007t0003g0266 a0005c0007t0003g0267 a0005c0007t0003g0270 a0005c0007t0003g0271 a0005c0007t0003g0272 a0023c0028t0001g0062	15	342	0.0439	10	c.158 others(27): Show c.1584-153_1584-144dupGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735707	G G	GGGGGCGG others(3): Show GGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0023 a0023	a0023c0028 a0023c0028	a0023c0028t0001 a0023c0028t0001	a0023c0028t0001g0062 a0023c0028t0001g0062	1	342	0.0029	10	c.158 others(27): Show c.1584-173_1584-164dupGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735727	G G	GGGGGCGG others(3): Show GGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01109.hp1 others(6): Show HG00639.hp1 HG01074.hp2 HG01109.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02723.hp2 HG02896.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0020 a0002c0004t0001 a0001c0001t0020 a0002c0004t0001	a0001c0001t0020g0250 a0002c0004t0001g0048 a0002c0004t0001g0055 others(6): Show a0001c0001t0020g0250 a0002c0004t0001g0048 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0072 a0002c0004t0001g0074 a0002c0004t0001g0075 a0002c0004t0001g0077	9	342	0.0263	10	c.158 others(27): Show c.1584-193_1584-184dupGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735732	C C	CGGGGCGG others(3): Show CGGGGCGGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0023 a0023	a0023c0028 a0023c0028	a0023c0028t0001 a0023c0028t0001	a0023c0028t0001g0062 a0023c0028t0001g0062	1	342	0.0029	10	c.158 others(27): Show c.1584-198_1584-189dupCCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735747	G G	GGGGGCGG others(3): Show GGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01106.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0018 a0002c0004t0001 a0002c0004t0018	a0002c0004t0001g0061 a0002c0004t0001g0071 a0002c0004t0018g0065 a0002c0004t0001g0061 a0002c0004t0001g0071 a0002c0004t0018g0065	3	342	0.0088	10	c.158 others(27): Show c.1584-213_1584-204dupGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735792	G G	GGGGGCGG others(3): Show GGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0259 a0001c0001t0008g0259	1	342	0.0029	10	c.158 others(27): Show c.1584-258_1584-249dupGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735803	G G	GGTGGTTC others(3): Show GGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02602.hp2 HG03491.hp2 others(3): Show HG00738.hp2 HG02602.hp2 HG03491.hp2 HG03492.hp2 NA19005.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0087 a0001c0001t0001g0116 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0087 a0001c0001t0001g0116 a0001c0006t0001g0100 a0001c0006t0001g0131	6	342	0.0175	10	c.158 others(27): Show c.1584-260_1584-259insGCAGAACCAC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735817	G G	GCGGGCGG others(3): Show GCGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0299 a0001c0001t0005g0299	1	342	0.0029	10	c.158 others(27): Show c.1584-274_1584-273insGCCCCGCCCG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735830	G G	GGCGGGGC others(3): Show GGCGGGGCGGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0186 a0001c0002t0002g0186	1	342	0.0029	10	c.158 others(27): Show c.1583+279_1583+280insACCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735837	G G	GGGGGCGG others(3): Show GGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0270 a0005c0007t0003g0270	1	342	0.0029	10	c.158 others(27): Show c.1583+263_1583+272dupGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735842	C C	CGGGGGTT others(3): Show CGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0003	a0006c0009t0003g0264 a0006c0009t0003g0264	1	342	0.0029	10	c.158 others(27): Show c.1583+267_1583+268insCAGAACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735847	C C	CGGGGGTT others(3): Show CGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp2 HG03041.hp2 others(3): Show HG00733.hp2 HG01123.hp2 HG03041.hp2 HG03491.hp1 NA18522.hp1 NA18967.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0024 a0003c0005t0004g0030 a0003c0005t0004g0034 others(3): Show a0003c0005t0004g0024 a0003c0005t0004g0030 a0003c0005t0004g0034 a0003c0005t0004g0035 a0003c0005t0004g0036 a0003c0005t0004g0037	6	342	0.0175	10	c.158 others(27): Show c.1583+262_1583+263insCAGAACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735848	G G	GGGGGTTC others(3): Show GGGGGTTCTGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01099.hp1 others(11): Show HG00280.hp1 HG00738.hp1 HG01099.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG02135.hp2 HG02293.hp2 HG03017.hp2 HG03710.hp1 HG04199.hp2 NA18966.hp2 NA19010.hp1 NA20905.hp2	a0003 a0024 a0003 a0024	a0003c0005 a0024c0018 a0003c0005 a0024c0018	a0003c0005t0004 a0024c0018t0004 a0003c0005t0004 a0024c0018t0004	a0003c0005t0004g0019 a0003c0005t0004g0020 a0003c0005t0004g0021 others(11): Show a0003c0005t0004g0019 a0003c0005t0004g0020 a0003c0005t0004g0021 a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0004g0026 a0003c0005t0004g0027 a0003c0005t0004g0029 a0003c0005t0004g0031 a0003c0005t0004g0033 a0003c0005t0004g0038 a0003c0005t0004g0040 a0003c0005t0004g0041 a0024c0018t0004g0039	14	342	0.0409	10	c.158 others(27): Show c.1583+261_1583+262insGCAGAACCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735868	C C	CGGGCGGG others(3): Show CGGGCGGGGCG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18990.hp1 NA18957.hp2 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	2	342	0.0059	10	c.158 others(27): Show c.1583+232_1583+241dupCGCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735877	C C	CGGGGGTT others(3): Show CGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02300.hp1 NA20805.hp2 HG01346.hp1 HG02300.hp1 NA20805.hp2	a0002 a0022 a0002 a0022	a0002c0004 a0022c0035 a0002c0004 a0022c0035	a0002c0004t0001 a0022c0035t0002 a0002c0004t0001 a0022c0035t0002	a0002c0004t0001g0054 a0002c0004t0001g0055 a0022c0035t0002g0206 a0002c0004t0001g0054 a0002c0004t0001g0055 a0022c0035t0002g0206	3	342	0.0088	10	c.158 others(27): Show c.1583+232_1583+233insCAGAACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735878	G G	GGGGGTTC others(3): Show GGGGGTTCTGC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA20905.hp2 NA19010.hp1 NA20905.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0020 a0003c0005t0004g0022 a0003c0005t0004g0020 a0003c0005t0004g0022	2	342	0.0059	10	c.158 others(27): Show c.1583+231_1583+232insGCAGAACCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735882	C C	CGGGGGTT others(3): Show CGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18959.hp1 NA18994.hp1 others(1): Show HG01346.hp2 NA18959.hp1 NA18994.hp1 NA19007.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0010 a0001c0002 a0004c0010	a0001c0002t0002 a0004c0010t0002 a0001c0002t0002 a0004c0010t0002	a0001c0002t0002g0156 a0001c0002t0002g0180 a0001c0002t0002g0198 others(1): Show a0001c0002t0002g0156 a0001c0002t0002g0180 a0001c0002t0002g0198 a0004c0010t0002g0219	4	342	0.0117	10	c.158 others(27): Show c.1583+227_1583+228insCAGAACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735883	G G	GGGGGTTC others(3): Show GGGGGTTCTGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0022 a0008c0014t0022	a0008c0014t0022g0249 a0008c0014t0022g0249	1	342	0.0029	10	c.158 others(27): Show c.1583+226_1583+227insGCAGAACCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735883	G G	GGTGGTTC others(3): Show GGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19062.hp2 NA19063.hp2 HG01109.hp2 NA19062.hp2 NA19063.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0029 a0001c0001 a0006c0029	a0001c0001t0001 a0001c0001t0016 a0006c0029t0003 a0001c0001t0001 a0001c0001t0016 a0006c0029t0003	a0001c0001t0001g0122 a0001c0001t0016g0142 a0006c0029t0003g0308 a0001c0001t0001g0122 a0001c0001t0016g0142 a0006c0029t0003g0308	3	342	0.0088	10	c.158 others(27): Show c.1583+226_1583+227insGCAGAACCAC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735888	G G	GGGGGTTC others(3): Show GGGGGTTCTGC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA20905.hp2 NA19010.hp1 NA20905.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0020 a0003c0005t0004g0022 a0003c0005t0004g0020 a0003c0005t0004g0022	2	342	0.0059	10	c.158 others(27): Show c.1583+221_1583+222insGCAGAACCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735907	G G	GCGGGCGG others(3): Show GCGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA20905.hp1 HG03239.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0126 a0001c0001t0001g0127	2	342	0.0059	10	c.158 others(27): Show c.1583+202_1583+203insGCCCCGCCCG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735917	C C	CGGGGGTT others(3): Show CGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02015.hp1 HG02293.hp2 others(4): Show HG00323.hp1 HG02015.hp1 HG02293.hp2 HG03017.hp2 HG03710.hp1 NA19010.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0005 a0002c0004t0001 a0003c0005t0004 a0001c0001t0005 a0002c0004t0001 a0003c0005t0004	a0001c0001t0005g0306 a0002c0004t0001g0076 a0003c0005t0004g0020 others(4): Show a0001c0001t0005g0306 a0002c0004t0001g0076 a0003c0005t0004g0020 a0003c0005t0004g0022 a0003c0005t0004g0026 a0003c0005t0004g0027 a0003c0005t0004g0038	7	342	0.0205	10	c.158 others(27): Show c.1583+192_1583+193insCAGAACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735930	G G	GGCGGGGC others(3): Show GGCGGGGCGGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG01192.hp1 others(5): Show HG00735.hp1 HG01071.hp1 HG01192.hp1 HG02451.hp1 HG02559.hp2 HG02976.hp2 HG03688.hp1 NA18522.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0023	a0001c0001 a0002c0004 a0004c0008 others(1): Show a0001c0001 a0002c0004 a0004c0008 a0023c0028	a0001c0001t0001 a0002c0004t0001 a0004c0008t0001 others(1): Show a0001c0001t0001 a0002c0004t0001 a0004c0008t0001 a0023c0028t0001	a0001c0001t0001g0064 a0002c0004t0001g0048 a0002c0004t0001g0056 others(5): Show a0001c0001t0001g0064 a0002c0004t0001g0048 a0002c0004t0001g0056 a0002c0004t0001g0059 a0002c0004t0001g0060 a0002c0004t0001g0063 a0004c0008t0001g0147 a0023c0028t0001g0062	8	342	0.0234	10	c.158 others(27): Show c.1583+179_1583+180insACCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735955	G G	GGCGGGGC others(3): Show GGCGGGGCGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0066 a0002c0004t0001g0066	1	342	0.0029	10	c.158 others(27): Show c.1583+154_1583+155insACCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735962	G G	GGGGGCAG others(3): Show GGGGGCAGGGC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG04115.hp2 HG01975.hp2 HG04115.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0023 a0003c0005t0004g0028 a0003c0005t0004g0023 a0003c0005t0004g0028	2	342	0.0059	10	c.158 others(27): Show c.1583+147_1583+148insGCCCTGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735962	G G	GGGGGCGG others(3): Show GGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01358.hp1 HG01884.hp1 others(15): Show HG00423.hp1 HG01358.hp1 HG01884.hp1 HG02572.hp2 HG02970.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 NA18747.hp2 NA18944.hp2 NA19000.hp2 NA19043.hp2 NA19064.hp1 NA19091.hp2 NA20905.hp1	a0001 a0005 a0020 others(1): Show a0001 a0005 a0020 a0025	a0001c0001 a0005c0007 a0020c0022 others(1): Show a0001c0001 a0005c0007 a0020c0022 a0025c0017	a0001c0001t0001 a0001c0001t0010 a0005c0007t0003 others(2): Show a0001c0001t0001 a0001c0001t0010 a0005c0007t0003 a0020c0022t0001 a0025c0017t0003	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0083 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0083 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0010g0279 a0005c0007t0003g0266 a0020c0022t0001g0148 a0025c0017t0003g0274	18	342	0.0526	10	c.158 others(27): Show c.1583+138_1583+147dupGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735972	C C	CGGGGGTT others(3): Show CGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02132.hp1 others(15): Show HG02040.hp1 HG02071.hp1 HG02132.hp1 HG03017.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp2 NA18941.hp1 NA18970.hp2 NA18993.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19079.hp2 NA19084.hp1 NA19091.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0032 a0001c0001 a0012c0032	a0001c0001t0005 a0012c0032t0005 a0001c0001t0005 a0012c0032t0005	a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 others(15): Show a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0298 a0001c0001t0005g0303 a0001c0001t0005g0305 a0001c0001t0005g0309 a0012c0032t0005g0302	18	342	0.0526	10	c.158 others(27): Show c.1583+137_1583+138insCAGAACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38742850	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp2 HG01243.hp1 others(7): Show HG00140.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG02300.hp1 HG02602.hp1 HG02723.hp2 HG02976.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0002c0004t0001	a0001c0001t0006g0253 a0001c0001t0009g0254 a0001c0001t0009g0255 others(7): Show a0001c0001t0006g0253 a0001c0001t0009g0254 a0001c0001t0009g0255 a0001c0001t0021g0256 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0058	10	342	0.0292	10	c.307 others(25): Show c.307+173_307+182dupTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	2/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38749044	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02040.hp1 HG02132.hp1 others(15): Show HG02015.hp1 HG02040.hp1 HG02132.hp1 HG03017.hp1 HG03688.hp2 HG03704.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18970.hp2 NA18990.hp2 NA18993.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19068.hp1 NA21309.hp2	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0004c0008 a0012c0032 a0001c0001 a0004c0008 a0012c0032	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0004c0008t0005 a0012c0032t0005	a0001c0001t0003g0275 a0001c0001t0003g0278 a0001c0001t0003g0280 others(15): Show a0001c0001t0003g0275 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0307 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0296 a0001c0001t0005g0298 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0010g0276 a0004c0008t0005g0288 a0012c0032t0005g0302	18	342	0.0526	10	c.-48 others(21): Show c.-4880_-4879insTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		4571		chr19	TogoVar
CAPN13_chr2_30717771_30812446	30778283	G G	GTGGTTAT others(3): Show GTGGTTATGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp1 HG02622.hp2 HG03471.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0011 a0001c0001 a0012c0011	a0001c0001t0008 a0012c0011t0002 a0001c0001t0008 a0012c0011t0002	a0001c0001t0008g0078 a0012c0011t0002g0131 a0001c0001t0008g0078 a0012c0011t0002g0131	2	384	0.0052	10	c.199 others(25): Show c.199-654_199-645dupTCCATAACCA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	2/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800116	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	384	0.0026	10	c.-33 others(27): Show c.-33+7185_-33+7186insCTTTCTTTCT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30805747	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp2 HG03579.hp1 others(3): Show HG02976.hp1 HG03471.hp2 HG03579.hp1 NA19007.hp1 NA19081.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0245 others(3): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0245 a0001c0001t0001g0271 a0001c0001t0003g0244 a0001c0002t0002g0147	6	384	0.0156	10	c.-33 others(27): Show c.-33+1545_-33+1554dupAAAAAAAAAA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31179060	C C	CTATATAT others(3): Show CTATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02257.hp1 others(1): Show HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0180 a0001c0001t0010g0181 a0001c0001t0010g0182 others(1): Show a0001c0001t0010g0180 a0001c0001t0010g0181 a0001c0001t0010g0182 a0001c0001t0010g0183	4	326	0.0123	10	c.171 others(27): Show c.1711-491_1711-482dupTATATATATA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	17/21			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31181444	T T	TTCTTTCT others(3): Show TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19056.hp1 HG01358.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0021 a0002c0002t0001 a0002c0004t0021	a0002c0002t0001g0238 a0002c0004t0021g0027 a0002c0002t0001g0238 a0002c0004t0021g0027	2	326	0.0061	10	c.164 others(27): Show c.1646-445_1646-444insGAAAGAAAGA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	16/21			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31190137	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG01074.hp1 others(29): Show HG00280.hp2 HG00673.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01978.hp1 HG02145.hp1 HG02148.hp1 HG02273.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03834.hp2 HG03942.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA19064.hp1 NA19065.hp1 NA19240.hp2 NA20129.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0009 a0010 a0013	a0002c0002 a0002c0004 a0002c0012 others(7): Show a0002c0002 a0002c0004 a0002c0012 a0003c0005 a0003c0018 a0004c0006 a0004c0014 a0009c0010 a0010c0015 a0013c0022	a0002c0002t0001 a0002c0002t0004 a0002c0004t0004 others(13): Show a0002c0002t0001 a0002c0002t0004 a0002c0004t0004 a0002c0004t0005 a0002c0004t0021 a0002c0012t0001 a0002c0012t0009 a0003c0005t0001 a0003c0005t0005 a0003c0018t0009 a0003c0018t0018 a0004c0006t0005 a0004c0014t0001 a0009c0010t0022 a0010c0015t0012 a0013c0022t0005	a0002c0002t0001g0002 a0002c0002t0001g0203 a0002c0002t0001g0228 others(25): Show a0002c0002t0001g0002 a0002c0002t0001g0203 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0302 a0002c0002t0004g0230 a0002c0004t0004g0175 a0002c0004t0005g0031 a0002c0004t0005g0068 a0002c0004t0021g0027 a0002c0012t0001g0125 a0002c0012t0009g0122 a0002c0012t0009g0123 a0003c0005t0001g0144 a0003c0005t0001g0146 a0003c0005t0005g0019 a0003c0018t0009g0166 a0003c0018t0018g0152 a0003c0018t0018g0165 a0004c0006t0005g0035 a0004c0006t0005g0044 a0004c0014t0001g0010 a0004c0014t0001g0139 a0004c0014t0001g0148 a0004c0014t0001g0149 a0009c0010t0022g0089 a0010c0015t0012g0253 a0013c0022t0005g0045	32	326	0.0982	10	c.128 others(27): Show c.1288-669_1288-660dupGAGAGAGAGA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	12/21			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31210460	C C	CATAAAAT others(3): Show CATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01168.hp1 others(40): Show HG00323.hp2 HG01123.hp1 HG01168.hp1 HG01261.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG04199.hp1 HG06807.hp1 NA18989.hp2 NA19054.hp1 NA19062.hp1 NA19081.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0009 a0017 a0019	a0001c0001 a0001c0003 a0001c0011 others(10): Show a0001c0001 a0001c0003 a0001c0011 a0002c0004 a0002c0012 a0003c0005 a0003c0018 a0005c0013 a0005c0017 a0007c0009 a0009c0010 a0017c0027 a0019c0047	a0001c0001t0001 a0001c0001t0010 a0001c0003t0015 others(16): Show a0001c0001t0001 a0001c0001t0010 a0001c0003t0015 a0001c0011t0004 a0002c0004t0001 a0002c0012t0001 a0002c0012t0009 a0002c0012t0026 a0003c0005t0001 a0003c0018t0009 a0003c0018t0018 a0005c0013t0006 a0005c0017t0028 a0007c0009t0003 a0007c0009t0006 a0007c0009t0030 a0009c0010t0011 a0017c0027t0009 a0019c0047t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0010g0168 others(38): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0010g0168 a0001c0001t0010g0180 a0001c0001t0010g0181 a0001c0001t0010g0182 a0001c0001t0010g0183 a0001c0003t0015g0288 a0001c0003t0015g0289 a0001c0011t0004g0129 a0002c0004t0001g0009 a0002c0004t0001g0131 a0002c0004t0001g0134 a0002c0004t0001g0161 a0002c0012t0001g0125 a0002c0012t0001g0135 a0002c0012t0009g0122 a0002c0012t0009g0123 a0002c0012t0009g0124 a0002c0012t0026g0126 a0003c0005t0001g0144 a0003c0005t0001g0145 a0003c0005t0001g0146 a0003c0005t0001g0151 a0003c0005t0001g0157 a0003c0018t0009g0166 a0003c0018t0018g0152 a0003c0018t0018g0165 a0005c0013t0006g0127 a0005c0013t0006g0128 a0005c0013t0006g0137 a0005c0017t0028g0130 a0007c0009t0003g0138 a0007c0009t0003g0160 a0007c0009t0003g0162 a0007c0009t0006g0150 a0007c0009t0030g0156 a0009c0010t0011g0013 a0017c0027t0009g0142 a0017c0027t0009g0143 a0019c0047t0001g0163	43	326	0.1319	10	c.-52 others(27): Show c.-52-4971_-52-4962dupTTTATTTTAT	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	1/21			chr2	TogoVar
CAPN15_chr16_522712_559636	526063	C C	CCGTGAAC others(3): Show CCGTGAACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0001 a0001c0063t0001	a0001c0063t0001g0266 a0001c0063t0001g0266	1	410	0.0024	10	c.-21 others(21): Show c.-2156_-2155insCGTGAACCCT	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding		1648		chr16	TogoVar
CAPN1_chr11_65176928_65217006	65215995	C C	CGTGAGCT others(3): Show CGTGAGCTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0140 a0002c0003t0001g0140	1	394	0.0025	10	c.47 others(21): Show c.4709_*4710insGTGAGCTGGA	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding		3990		chr11	TogoVar
CAPN2_chr1_223707539_223781018	223719805	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp1 HG00733.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0357 a0001c0003t0001g0358 a0001c0003t0001g0357 a0001c0003t0001g0358	2	378	0.0053	10	c.307 others(27): Show c.307+1992_307+2001dupTGTGTGTGTG	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN2_chr1_223707539_223781018	223719831	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18999.hp2 HG02630.hp2 NA18999.hp2	a0001 a0005 a0001 a0005	a0001c0010 a0005c0039 a0001c0010 a0005c0039	a0001c0010t0003 a0005c0039t0001 a0001c0010t0003 a0005c0039t0001	a0001c0010t0003g0329 a0005c0039t0001g0369 a0001c0010t0003g0329 a0005c0039t0001g0369	2	378	0.0053	10	c.307 others(27): Show c.307+2001_307+2002insTGTGTGTGCG	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN2_chr1_223707539_223781018	223737721	G G	GGCGGGGG others(3): Show GGCGGGGGGTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0001 a0002c0035t0001	a0002c0035t0001g0292 a0002c0035t0001g0292	1	378	0.0027	10	c.308 others(27): Show c.308-6379_308-6378insGCGGGGGGTA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPN2_chr1_223707539_223781018	223746475	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG02280.hp1 others(22): Show HG01099.hp2 HG01261.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp1 NA18948.hp2 NA18987.hp2 NA18998.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0001c0007 a0002c0035 others(2): Show a0001c0002 a0001c0007 a0002c0035 a0005c0009 a0006c0014	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0007t0001 a0002c0035t0001 a0005c0009t0003 a0006c0014t0001	a0001c0002t0001g0006 a0001c0002t0001g0019 a0001c0002t0001g0032 others(21): Show a0001c0002t0001g0006 a0001c0002t0001g0019 a0001c0002t0001g0032 a0001c0002t0001g0047 a0001c0002t0001g0061 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0339 a0001c0002t0001g0349 a0001c0002t0003g0098 a0001c0002t0006g0004 a0001c0002t0006g0075 a0001c0002t0006g0140 a0001c0002t0006g0336 a0001c0002t0006g0337 a0001c0002t0006g0340 a0001c0002t0006g0342 a0001c0007t0001g0181 a0001c0007t0001g0230 a0001c0007t0001g0293 a0001c0007t0001g0295 a0002c0035t0001g0292 a0005c0009t0003g0341 a0006c0014t0001g0315	25	378	0.0661	10	c.561 others(25): Show c.561-510_561-501dupTTTTTTTTTT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN5_chr11_77061971_77131155	77067632	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01257.hp1 HG01515.hp2 others(40): Show HG01071.hp2 HG01257.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02145.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03654.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp1 NA18747.hp1 NA18956.hp2 NA18966.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19087.hp2 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0004c0005 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0039 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0007t0026 a0002c0003t0001 a0004c0005t0001 a0006c0008t0003	a0001c0001t0001g0016 a0001c0001t0001g0151 a0001c0001t0001g0152 others(40): Show a0001c0001t0001g0016 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0273 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0004g0272 a0001c0001t0004g0274 a0001c0001t0006g0219 a0001c0001t0006g0280 a0001c0001t0007g0277 a0001c0001t0008g0149 a0001c0001t0008g0156 a0001c0001t0009g0279 a0001c0001t0010g0281 a0001c0001t0014g0275 a0001c0001t0017g0101 a0001c0001t0022g0271 a0001c0001t0039g0159 a0001c0002t0002g0210 a0001c0002t0003g0213 a0001c0002t0006g0212 a0001c0002t0014g0209 a0001c0002t0014g0214 a0001c0002t0014g0221 a0001c0007t0026g0017 a0001c0007t0026g0018 a0002c0003t0001g0211 a0004c0005t0001g0241 a0006c0008t0003g0019	43	382	0.1126	10	c.-36 others(25): Show c.-36+567_-36+576dupGTGTGTGTGT	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77079783	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03492.hp1 HG02523.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0141 a0001c0001t0008g0142 a0001c0001t0001g0141 a0001c0001t0008g0142	2	382	0.0052	10	c.-35 others(27): Show c.-35-5047_-35-5038dupGTGTGTGTGT	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77084234	G G	GCTGGGCC others(3): Show GCTGGGCCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp1 others(63): Show HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00738.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01346.hp2 HG01934.hp1 HG01993.hp1 HG02148.hp1 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG02738.hp1 HG03098.hp2 HG03492.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18956.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp1 NA18993.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19065.hp2 NA19070.hp1 NA19085.hp1 NA19091.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0003 a0012c0017 a0001c0001 a0002c0003 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0047 a0001c0001t0049 a0002c0003t0028 a0012c0017t0016	a0001c0001t0001g0007 a0001c0001t0001g0102 a0001c0001t0001g0108 others(62): Show a0001c0001t0001g0007 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0118 a0001c0001t0002g0138 a0001c0001t0002g0155 a0001c0001t0002g0203 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0004g0137 a0001c0001t0005g0119 a0001c0001t0005g0129 a0001c0001t0005g0161 a0001c0001t0008g0128 a0001c0001t0008g0130 a0001c0001t0008g0131 a0001c0001t0008g0142 a0001c0001t0008g0149 a0001c0001t0011g0148 a0001c0001t0018g0120 a0001c0001t0020g0163 a0001c0001t0020g0164 a0001c0001t0020g0166 a0001c0001t0023g0093 a0001c0001t0023g0140 a0001c0001t0025g0111 a0001c0001t0027g0135 a0001c0001t0027g0162 a0001c0001t0037g0110 a0001c0001t0038g0132 a0001c0001t0039g0159 a0001c0001t0047g0139 a0001c0001t0049g0114 a0002c0003t0028g0335 a0012c0017t0016g0121	66	382	0.1728	10	c.-35 others(25): Show c.-35-609_-35-600dupACCTGGGCCC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77125614	C C	CTATATAT others(3): Show CTATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG02015.hp2 HG01496.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0042 a0001c0001t0041 a0001c0001t0042	a0001c0001t0041g0320 a0001c0001t0042g0190 a0001c0001t0041g0320 a0001c0001t0042g0190	2	382	0.0052	10	c.17 others(21): Show c.1761_*1770dupTATATATATA	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	13/13	1771	INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN7_chr3_15201246_15257916	15210596	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	376	0.0027	10	c.103 others(27): Show c.103-1500_103-1491dupTTTTTTTTTT	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN9_chr1_230742388_230806989	230761555	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(60): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG01109.hp2 HG01243.hp1 HG01884.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18962.hp2 NA18963.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19064.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0012 a0015 a0022	a0002c0009 a0003c0004 a0003c0022 others(10): Show a0002c0009 a0003c0004 a0003c0022 a0004c0007 a0005c0008 a0005c0035 a0006c0014 a0008c0011 a0009c0020 a0009c0021 a0012c0015 a0015c0019 a0022c0024	a0002c0009t0001 a0003c0004t0001 a0003c0004t0002 others(12): Show a0002c0009t0001 a0003c0004t0001 a0003c0004t0002 a0003c0022t0001 a0004c0007t0001 a0004c0007t0002 a0005c0008t0001 a0005c0035t0001 a0006c0014t0001 a0008c0011t0001 a0009c0020t0001 a0009c0021t0001 a0012c0015t0001 a0015c0019t0003 a0022c0024t0001	a0002c0009t0001g0030 a0003c0004t0001g0082 a0003c0004t0001g0099 others(60): Show a0002c0009t0001g0030 a0003c0004t0001g0082 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0110 a0003c0004t0001g0116 a0003c0004t0001g0119 a0003c0004t0001g0121 a0003c0004t0001g0123 a0003c0004t0001g0125 a0003c0004t0001g0126 a0003c0004t0001g0128 a0003c0004t0001g0129 a0003c0004t0001g0130 a0003c0004t0001g0246 a0003c0004t0001g0249 a0003c0004t0001g0255 a0003c0004t0001g0261 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0271 a0003c0004t0001g0314 a0003c0004t0001g0322 a0003c0004t0001g0328 a0003c0004t0001g0330 a0003c0004t0001g0337 a0003c0004t0001g0341 a0003c0004t0001g0342 a0003c0004t0002g0109 a0003c0004t0002g0124 a0003c0022t0001g0127 a0004c0007t0001g0073 a0004c0007t0001g0107 a0004c0007t0001g0222 a0004c0007t0002g0071 a0005c0008t0001g0096 a0005c0008t0001g0097 a0005c0008t0001g0166 a0005c0008t0001g0234 a0005c0008t0001g0235 a0005c0008t0001g0237 a0005c0008t0001g0238 a0005c0008t0001g0239 a0005c0008t0001g0241 a0005c0008t0001g0242 a0005c0008t0001g0243 a0005c0035t0001g0236 a0006c0014t0001g0070 a0008c0011t0001g0076 a0008c0011t0001g0077 a0008c0011t0001g0078 a0008c0011t0001g0301 a0008c0011t0001g0313 a0008c0011t0001g0315 a0009c0020t0001g0333 a0009c0021t0001g0117 a0012c0015t0001g0029 a0012c0015t0001g0031 a0015c0019t0003g0339 a0022c0024t0001g0320	63	394	0.1599	10	c.403 others(27): Show c.403-1090_403-1081dupCACACACACA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)